HS2ST1

Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene.

heparan sulfate 2-O-sulfotransferase 1

Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity).

Glycosaminoglycan biosynthetic process Source: Reactome
Heparan sulfate proteoglycan biosynthetic process, enzymatic modification Source: GO_Central
Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: GO_Central

Golgi apparatus membrane

Neurofacioskeletal syndrome with or without renal agenesis (NFSRA):
An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis.

Cytoplasmic: 1-11
Helical: 12-28
Lumenal: 29-356

N-glycosylated.